The regulation mechanisms of filamins' physiological functions

The regulation of the cellular functions is complicated and important process. One way how cells perform this task is converting of mechanical forces into biochemical signals. Filamins are one of the most important molecules which transmit the mechanical force induced biochemical signals in cells. Mutations in filamin genes can be either lethal or to lead brain, bone, heart and cardiovascular developmental disorders. Here we have investigated inherited bone and heart developmental disorders caused by mutations in Filamin gene. By combining various structural biology, computational biophysics and biochemistry methods, different Filamin mutations were observed to have different structural effects. Interestingly, even very small structural change was observed to have significant effect on Filamin's ability to transmit cellular force. Mutations were also observed to influence on Filamins interactions with other proteins.